Linked Data
ClinVar Variation Id:
1205866
dbSNP Id:
rs925811677
ExAC:
7:19156668 T / C
gnomAD v2:
7-19156668-T-C
gnomAD v3:
7-19117045-T-C
gnomAD v4:
7-19117045-T-C
MyVariant Identifiers:
chr7:g.19156668T>C (hg19)
chr7:g.19156668_19156686delinsCGCCGCCGCCGCCGCCCGC (hg19)
chr7:g.19156668_19156689delinsCGCCGCCGCCGCCGCCCGCGCC (hg19)
chr7:g.19117045T>C (hg38)
chr7:g.19117045_19117063delinsCGCCGCCGCCGCCGCCCGC (hg38)
chr7:g.19117045_19117066delinsCGCCGCCGCCGCCGCCCGCGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117045T>C , CM000669.2:g.19117045T>C | GRCh38 |
| NC_000007.13:g.19156668T>C , CM000669.1:g.19156668T>C | GRCh37 |
| NC_000007.12:g.19123193T>C | NCBI36 |
| NG_008114.1:g.5628A>G | |
| NG_008114.2:g.5628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.277A>G MANE Select | ENSP00000242261.5:p.Ser93Gly | |
| ENST00000242261.5:c.277A>G | ENSP00000242261.5:p.Ser93Gly | |
| ENST00000354571.5:c.74A>G | ||
| NM_000474.3:c.277A>G | NP_000465.1:p.Ser93Gly | |
| XM_011515496.1:c.277A>G | XP_011513798.1:p.Ser93Gly | |
| NR_149001.1:n.628A>G | ||
| NM_000474.4:c.277A>G MANE Select | NP_000465.1:p.Ser93Gly | |
| NR_149001.2:n.592A>G |